Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb-brachyectrodactyly syndrome.

The triphalangeal thumb-brachyectrodactyly syndrome is a very rare autosomal dominant disorder of unknown etiology characterized by an unusual pattern of limb malformations: triphalangeal thumbs and brachyectrodactyly in the hands, and ectrodactyly in the feet. In a previous report, we described the clinical and radiographical features of three related subjects with the disease and suggest that due to the unusual combination of limb defects and to its phenotypic similarity with the limb malformative pattern induced by disrupting the Hoxd13 gene in mouse, the triphalangeal thumb-brachyectrodactyly syndrome might be caused by mutations in a HOX gene. After sequencing the entire coding region of HOXD13 and the highly conserved homeodomain encoding region of HOXA13, we do not detect any deleterious mutation in any of the patients excluding that alterations at these sequences are responsible for the disease. Mutations in regulatory regions of these genes or in other genes involved in limb development might be responsible for the disease.     

粒细胞集落刺激因子治疗下肢缺血性疾病

目的探讨粒细胞集落刺激因子(rhG-CSF)对下肢缺血模型血管新生的影响。方法制作兔左下肢缺血模型,术后随机分为rhG-CSF治疗实验组(n=24)和对照组(n=24);应用流式细胞学技术、动脉造影、免疫组织化学染色检查,比较两组外周血CD34 细胞的含量、缺血下肢侧枝血管计数及肌肉毛细血管密度。结果治疗后3 d实验组CD34 含量(%)为(0.7150±0.0873)明显高于对照组(0.3983±0.0853),差异有统计学意义(P<0.01);实验组在第15、30天时侧枝血管计数(6.33±0.82、9.17±0.75)均高于对照组(3.33±0.52、4.17±0.75)(P<0.01);第40天实验组内收肌毛细血管密度平均为8.5/HP,明显高于对照组4.2/HP(P<0.01)。结论rhG-CSF可以增加兔缺血下肢的毛细血管数量,有促进血管新生的作用。     

Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.

BACKGROUND: The HOXA1 gene plays a major role in brainstem and cranial morphogenesis. The G allele of the HOXA1 A218G polymorphism has been previously found associated with autism. METHODS: We performed case-control and family-based association analyses, contrasting 127 autistic patients with 174 ethnically matched controls, and assessing for allelic transmission disequilibrium in 189 complete trios. RESULTS: A, and not G, alleles were associated with autism using both case-control (chi(2) = 8.96 and 5.71, 1 df, p <.005 and <.025 for genotypes and alleles, respectively), and family-based (transmission/disequilibrium test chi(2) = 8.80, 1 df, p <.005) association analyses. The head circumference of 31 patients carrying one or two copies of the G allele displayed significantly larger median values (95.0th vs. 82.5th percentile, p <.05) and dramatically reduced interindividual variability (p <.0001), compared with 166 patients carrying the A/A genotype. CONCLUSIONS: The HOXA1 A218G polymorphism explains approximately 5% of the variance in the head circumference of autistic patients and represents to our knowledge the first known gene variant providing sizable contributions to cranial morphology. The disease specificity of this finding is currently being investigated. Nonreplications in genetic linkage/association studies could partly stem from the dyshomogeneous distribution of an endophenotype morphologically defined by cranial circumference.     

WHO and ATPIII proposals for the definition of the metabolic syndrome in patients with Type 2 diabetes.

AIMS: Different criteria have been proposed by the World Health Organization (WHO) and by the Third Report of the National Cholesterol Education Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (ATPIII) for the diagnosis of the metabolic syndrome. Its identification is of particular importance for coronary risk assessment. METHODS: The prevalence of the metabolic syndrome was determined according to the two different proposals in 1569 consecutive subjects with Type 2 diabetes. RESULTS: By the WHO proposal, 81% of cases (95% confidence interval, 79-83) were labelled as metabolic syndrome. Microalbuminuria had the highest specificity (99%) and visceral obesity the highest sensitivity (93%). Seventy-eight per cent of patients (95% CI, 76-80) fulfilled the ATPIII criteria for metabolic syndrome, low HDL-cholesterol having the highest specificity (95%), elevated blood pressure having the highest sensitivity. According to both proposals, 1113 patients were positive; 183 were concordantly negative, indicative of a fairly good agreement (k statistics, 0.464). Subjects only positive for the WHO proposal were more frequently males, had a lower BMI and a higher arterial pressure. Only subjects identified by the ATPIII proposal had a significantly higher prevalence of previously detected coronary heart disease. CONCLUSIONS: Minimum criteria for the metabolic syndrome are met in most patients with Type 2 diabetes. Correct identification of the syndrome is important for an integrated approach to reduce the high costs and the associated disabilities. The ATPIII proposal more clearly identifies the burden of coronary heart disease associated with the metabolic syndrome.     

Physical inactivity, excess adiposity and premature mortality

The purpose of this report is to review the evidence that physical inactivity and excess adiposity are related to an increased risk of all‐cause mortality, and to better identify the independent contributions of each to all‐cause mortality rates. A variance‐based method of meta‐analysis was used to summarize the relationships from available studies. The summary relative risk of all‐cause mortality for physical activity from the 55 analyses (31 studies) that included an index of adiposity as a covariate was 0.80 [95% confidence interval (CI) 0.78–0.82], whereas it was 0.82 [95% CI 0.80–0.84] for the 44 analyses (26 studies) that did not include an index of adiposity. Thus, physically active individuals have a lower risk of mortality by comparison to physically inactive peers, independent of level of adiposity. The summary relative risk of all‐cause mortality for an elevated body mass index (BMI) from the 25 analyses (13 studies) that included physical activity as a covariate was 1.23 [95% CI 1.18–1.29], and it was 1.24 [95% CI 1.21–1.28] for the 81 analyses (36 studies) that did not include physical activity as a covariate. Studies that used a measure of adiposity other than the BMI show similar relationships with mortality, and stratified analyses indicate that both physical inactivity and adiposity are important determinants of mortality risk.     

胎儿主要肢骨发育时间表──超声骨龄

用Ｂ超检测正常妊娠中的胎儿。选择受精龄为１２至３８整周（ｃｏｍｐｌｅｔｅｄｗｅｅｋ）的胎儿２９７例。测量其主要肢骨（干）长度。并将所测数据进行统计学处理。结果表明胎儿肢骨的生长发育与胎龄有显著的正相关关系。     

Time to contact and the control of manual prehension

In the present study, a kinematic analysis was made of unconstrained, natural prehension movements directed toward an object approaching the observer on a conveyor belt at one of three constant velocities, from one of three different directions (head-on or along the fronto-parallel plane coming either from the subject′s left or right). Subjects were required to grasp the object when it reached a target located 20 cm directly in front of the hand′s start position. The kinematic analysis revealed that both the transport and grasp components of the movement changed in response to the experimental manipulations, but did so in a manner that guaranteed that, for objects approaching from a given direction, hand closure would begin at a constant time prior to object contact (regardless of the object’s approach speed). The kinematic analysis also revealed, however, that the onset of hand closure began earlier with objects approaching from the right than from other directions – an effect which would not be predicted if time to contact was the key variable controlling the onset of hand closure. These results, then, lend only partial support to the theory that temporal coordination between the transport and grasp components of prehension is ensured through their common dependence on time to contact information. Received: 20 September 1996 / Accepted: 16 June 1997     

白消安诱导构建胎鼠肢体畸形模型的研究

目的用易获得的化学药物建立大鼠四肢畸形发生率稳定、畸形类型特异的动物模型。方法采用抗肿瘤类致畸药物白消安作为受试物,观察不同剂量和不同给药时间的胎仔畸形率、畸形类型及特征。结果在大鼠受孕第12天(GD12),一次经口给予白消安25mg/kg时,胎仔畸形类型主要为肢体畸形。肢体畸形率以活胎计为37.9%(33/87),以窝计为61.5%(8/13)。畸形类型常见于多指(趾)和缺指(趾),掌跖骨缺失和骨化不全发生率也较高。此外,还发生胫骨缺失和骨化不全,在观察大体形态时所见的短肢是由胫腓骨缺失和发育不全所致。四肢畸形的发生率和严重程度存在着不对称性,后肢较前肢出现率高,缺指(趾)畸形较其他畸形出现率高。结论成功建立大鼠肢体畸形动物模型,为进一步分析研究肢体发育畸形的分子机制和潜在原因奠定了基础。     

上肢屈曲性旋转撕脱离断伤的形成及功能挽救

目的探讨上肢轴向屈曲性旋转撕脱离断伤的形成以及侧胸和背部组织在功能挽救中的应用方式和疗效。方法2000年7月～2003年9月共收治6例上肢轴向屈曲性旋转撕脱离断伤患者,所有病例行一期再植或寄养再植。术后肩关节外展90°、肘关节屈曲100°位石膏或支具固定,6周后去除固定行功能锻炼。结果6例患者再植均顺利成活,随访3个月～2年,术后肩关节外展50°～90°,前屈50°～70°,后伸20°～30°,内收20°～40°;肘关节屈曲100°～140°,伸-20°～0°;重建术后3个月时屈肘肌力达Ⅳ～Ⅴ级。结论充分利用侧胸和背部组织特点进行分期、分层手术,解决创面覆盖和功能重建互相干扰的矛盾,是挽救严重轴向屈曲性旋转撕脱离断伤上肢,恢复其外形和功能的可靠方法。     

不同骨延长器治疗肢体畸形并大段骨缺损

[目的]利用Ilizarov支架、Orthofix肢体重建系统（Orthofix LRS）及Hybrid固定系统（Hybrid Fixation System）与Orthofix LRS的组合，对不同的肢体畸形并大段骨缺损进行矫形及骨延长治疗，同时观察其疗效。[方法]自2000年8月-2004年3月分别用Ilizarov支架、Orthofix LRS及Hybrid支架与Orthofix LRS的组合进行骨痂牵开／骨段滑移治疗合并肢体畸形的大段骨缺损。畸形处采用线形／楔形截骨。畸形愈合并骨短缩者楔形截骨后进行骨痂牵开骨延长术，骨不连并畸形及短缩者接合点加压与截骨矫形骨段滑移延长同时进行。[结果]矫正股骨短缩畸形7cm1例，胫骨6例，内翻畸形2例，后成角畸形2例，混合畸形2例。平均延长5．3cm（4．5—7cm），平均延长时间3．5个月，平均延长后外固定时间7个月，无神经血管损伤，膝踝关节活动未受影响。[结论]Ilizarov支架、Orthofix LRS、Hybrid固定系统与Orthofix LRS的组合用于骨痂牵开／骨段滑移治疗合并肢体畸形的大段骨缺损均能达到矫形及骨延长的治疗目的。Orthofix LRS及Hybrid固定系统与Orthofix LRS的组合较Ilizarov支架操作简便，安全可靠，患者乐于接受。